Wednesday, March 14, 2012

Ashley's diagnoses

A few friends of mine had asked me if I would write about when I found out about Ashley having Fragile X and how I handled the news etc. So I will attempt to write as much as I can remember etc.

I had never heard of Fragile X Syndrome before Ashley was diagnosed. Most people I speak to haven't heard of it either, even some doctors. This is the description from the National Fragile X Foundation:

Fragile X syndrome (FXS) is a genetic condition that causes intellectual disability, behavioral and learning challenges and various physical characteristics. Though FXS occurs in both genders, males are more frequently affected than females, and generally with greater severity.

When Ashley was born, there were no indications he was "different". All of his tests and scores came back fine. He was a wonderful baby. He hardly ever cried and from day 1 he slept for 8 hours at a time, I hardly ever had sleepless nights with him. Which helped as I did it on my own.

Ashley 1st birthday

I started having a slight inclination that something might not be right when he was about 18 months old and his speech really hadn't developed past the usual baby babble, ma ma, bubba etc but everyone, doctors included assured me he was just a little behind and not to worry.

It wasn't until I was working down in Southern Western Australia as a live in Nanny that the country nurse down there said she suspected Ashley had Fragile X Syndrome. I looked at her like she was speaking some other language and making it up. She recommended I get him tested, as it is a genetically inherited disorder so a simple blood test is all it would take.

So I took him to a paediatrician in Perth who actually said he thought it was Fragile X from just looking at Ashley. You see, most children with Fragile X have certain physical characteristics:

Physical features may include large ears, long face, soft skin and large testicles (called “macroorchidism”) in post-pubertal males. Connective tissue problems may include ear infections, flat feet, high arched palate, double-jointed fingers and hyper-flexible joints.

Ashley had larger than normal ears and some of the other characteristics. He ordered the blood tests and they came back positive. At first I was in a state of shock. The doctor also told me it was about 90% possible I was the carrier of the gene and I have a 50% chance of passing on to my children. This just devastated me. Not only was I to blame for Ashley's disorder, I have a chance of passing it onto my future children.

We were allocated a case worker at the Disability Services and they assigned us therapists, speech, motor skills etc. Ashley's very short concentration made it very hard for him to sit through the sessions when he was young. Although as he got older he did start improving more and more.

He has always been a very placid, easy going kid. He never once threw a tantrum or showed any of the violent tendencies that some children with the disorder have. But communication has always been difficult.

Then he started at a new school that was specifically for Special Needs children and he start really improving. His communication was improving but he still had trouble.

When I met Billy and he came to live with us I was really worried Ashley wouldn't take to him, as he was very wary of people he didn't know. But right away he adored Billy. And Billy loved him.

He copies him all the time:

Another thing I was really worried about was moving here, to the US from Australia, taking him out of his familiar school and being somewhere foreign and new. Ashley does not like change. But thankfully his new school and teacher are fantastic, I love his teach Miss Darcy. She is wonderful. Also Billy's family have been so wonderful with him.

Ashley & Billy's mum

In the past few years he has improved in leaps and bounds. Most people can understand him when he talks now, he isn't as shy as he used to be and he is very capable in a lot of ways.

I have had people tell me they are sorry I have a special needs child. But I'm not. I adore him just as he is. Sure I wish he had the opportunities that everyone has, but it doesn't take away from how absolutely beautiful he is. He is a pure soul. He has not an ounce of malice in him. He doesn't understand manipulation. I am scared sometimes people will take advantage of his innocence.

I just finished reading this and I have tears in my eyes. Your son has grown up to be a handsome young man. Your family is such a blessing, and while I know it cant have been easy, it literally warms to heart to read about your love for your son. Im honored to have this chance to get to know you and your son. Thank you so much for sharing.

Thank you so much for sharing this and allowing me the chance to get to know you and your son a little better. He appears to have grown up into a handsome young man and he has a beautiful, strong woman as his mom. As I read this, I had tears in my eyes at the beauty and love that it is clearly evident here.

This is so great Nikki. I can tell how much you love your son. I am not sorry you have a child with special needs either--getting the chance to be close with and in the life of a child with special needs is one of life's greatest gifts! Thank you for sharing.

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About Me

Hi there!! Thanks for stopping by! I'm Nikki, An Aussie girl now living in Central North Carolina in the USA. This blog is all about life here, weightloss, family, photography and bits of everything else. Enjoy!